No abstract available
Publication types
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Letter
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Carbohydrate Metabolism, Inborn Errors / diagnosis
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Carbohydrate Metabolism, Inborn Errors / enzymology
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Carbohydrate Metabolism, Inborn Errors / mortality
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DNA Mutational Analysis / methods
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Female
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Glucosyltransferases / deficiency*
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Glucosyltransferases / genetics*
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Glycosylation
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Humans
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Infant
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Infant, Newborn
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Male
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Mutation / genetics
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Mutation / physiology
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Mutation, Missense / genetics
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Mutation, Missense / physiology
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RNA Splice Sites / genetics
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RNA Splice Sites / physiology
Substances
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RNA Splice Sites
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ALG8 protein, human
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Glucosyltransferases